Nanophthalmos

Definition:

Nanophthalmos is a disorder characterized by phenotypically small but structurally normal eyes. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, some genes and loci have been implicated in familial forms of nanophthalmos.

References:

[1]. Mona S Awadalla, et al. Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. JAMA Ophthalmol. 2014 Aug;132(8):970-7. [Content Brief]

[2]. Pedro C Carricondo, et al. Nanophthalmos: A Review of the Clinical Spectrum and Genetics. J Ophthalmol. 2018 May 9;2018:2735465. [Content Brief]

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